POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A957V and S933R.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

203

A957V1

S933R1

Developmental delay, hypotonia, seizures, muscle weakness elevated transaminases, respiratory deficiency, lactic acidosis, high CSF lactate, elevate pyruvate, high CSF protein, abnormal EEG, abnormal MRI, FTT, hypoglycemia. 37% mtDNA copy number in muscle, 41% mtDNA copy number in blood.

-	lactic acidosis

-	muscle weakness

-	failure to thrive

hypotonic

-	developmental delay

-	respiratory deficiency

-	hypoglycemia

infantile

n/a

0.3

n/a

Tang et al, 2011;

[view data]

^1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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Mutations Entry IDs Clusters Reference Residue range

Reference:

References in full format are accessible through the references page.

Mutations:

Allele 1:	Allele 2:

Separate multiple mutations with commas. Use "PNF" for non-missense mutations.

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